Echogenic intracardial focus-soft marker for aneuploidy. But if
EIF isn´t EIF…?
Johannova V., Gennet Liberec, Czech republic
An echogenic intracardial focus (EIF) is an ultrasound „soft
marker“ for aneuploidy, most commonly for Down syndrome and trisomy
18. An EIFs are found in about 5% of all fetuses during second
trimester sonography. An EIF seems like a small bright spot in the
baby’s heart ventricle. This is throught to represent
mineralization or small deposite of calcium in the papillary
muscle.
Comparis of three case reports:1.case report: 40 years old woman
has been sent at our clinic at 18 week of pregnancy for possitive
integrated test for trisomy 21- RT 21 1/210 (combinated test in
I.trimester with risk T21 1/180). A result of US scan- foetus with
corresponding size, normal sonoanatomy, in the left ventricle
finding EIF. The patient refused an amniocentesis on the basic
normal scan. For atypical biochemical values the patient was
offered non-invasive test cfDNA- result- positivity for trisomy 21.
Amniocentesis confirmed Down syndrome at 20 week. Pregnancy was
terminated at 20+5w.
2.case report: 33 years old woman at 28 week has been sent at
our clinic for increasing finding in the left ventricle primary
identified as EIF. The patient was exa-mined at 21 week- normal
sonoanatomy and the finding 2 EIF’s in the left ventricle and in
the right ventricle. It was performed AMC for atypical values fbHCG
in I.trim., T-HCG in II.trim. PCR- normal karyotype 46XY. SNP array
was found gene duplication on chromosome 22 (80 KB BIG
MICRODUPLICATION IN PART 22Q11.21, MICRODUPLICATION AFFECTS GENE
TBX1, WHICH IS CONSIDERED CRITICAL FOR THE DEVELOPMENT OF HEART
DEFECTS). UZ scan at 24w (control after AMC)- normal sonoanatomy,
EIF in the LV, RV, polyhydramnios. US scan at 28w- it was described
EIF in the LV 8x5mm. It was suspected for cardiac rabdo-myoma LV.
It was indicated examination of the foetus in the cardiology
center(CC). Diagnosis from CC- critical stenosis aortae,
dysfunction hypertrofic LV, AOV dysplasia, fibroelastosis PM.
Pregnancy was continued to 37week, partus per section caesarea at
37+2w. The boy died three weeks after birth.
3. case report: 30 years old woman at 19 week of pregnancy was
recommended for second trimester genetic screening. US scan- foetus
with normal sonoanato-my, only hyperechogenic elongated body long
4mm seems like big EIF, seen in the left ventricle, symmetric four
chamber view, normal crossing of the big vessels. Risk of T21
1/1500. AMC (on the patient’s wishes)- normal karyotype 46XX. We
sent the patient to cardiology center for control examination. The
finding in the LV was described as a duplicated focus. The
pregnancy still continues. Now the patient is at 29 week and the
finding in the LV is the same without progression.
In conclusion…
The presence of an echogenic intracardial focus does raise the
risk that the fetus has a chromosomal abnormality, most commonly
Down syndrome like soft marker. The majority of the fetuses with
this finding are karyotypically normal. Apart relation with
aneuploidy showed no relationship between the presence of an EIF
and prevalence of the heart defects or cardiac dysfunction. But are
we sure that finding an EIF is always just soft marker of
aneuploi-dy? Sonographer should keep in mind it is easy to mistake
an EIF for some other ultrasound images. EIF shouldn’t be confused
for cardiac rabdomyoma, fibroelastosis of the myocardium, tricuspid
valve annulus, septomarginal trabeculum,..
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